{"id":"W2034607546","doi":"10.1167/iovs.06-0472","title":"Genotype-Phenotype Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients with<i>FOXC1</i>and<i>PITX2</i>Mutations","year":2006,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":170,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"University of Alberta","keywords":"PITX2; Glaucoma; Dysgenesis; Medicine; Proband; Intraocular pressure; Ophthalmology; Mutation; Biology; Genetics; Gene; Anatomy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.0002359497,0.0001828522,0.0002259761,0.0002944802,0.0003462051,0.00003674522,0.00008790092,0.00009607427,0.00003442514],"category_scores_gemma":[0.0002000364,0.0001453568,0.00001912764,0.0009262356,0.003178412,0.0004324138,0.00007125779,0.0002304843,0.00002404509],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007016001,"about_ca_system_score_gemma":0.0002197823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004330748,"about_ca_topic_score_gemma":0.00006191665,"domain_scores_codex":[0.9985526,0.00006989744,0.0002958839,0.0004009551,0.0003223848,0.0003583248],"domain_scores_gemma":[0.9992161,0.0001084586,0.0001276867,0.0001248925,0.0002386114,0.0001842509],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005894622,0.0001550879,0.9866967,0.00001649246,0.000005827058,0.0000281645,0.0006746083,0.000006473048,0.01085661,0.001300114,0.00001601244,0.0001849231],"study_design_scores_gemma":[0.001107906,0.0006838291,0.9901081,0.00006167479,0.00003392164,0.0001309253,0.0002091521,0.0008568403,0.001118292,0.005483186,0.00003861493,0.0001674975],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957519,0.00009538693,0.00001768936,0.0006603391,0.00007602849,0.0005065468,0.00000574335,0.00002705728,0.002859355],"genre_scores_gemma":[0.99762,0.000002578625,0.001892209,0.0002309095,0.00002035269,0.00003047064,0.00005645928,0.00001229196,0.0001347162],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009738315,"threshold_uncertainty_score":0.9995344,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0111926547876976,"score_gpt":0.2721686412043668,"score_spread":0.2609759864166692,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}